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A progressive and complex clinical course in two family members with ERF-related craniosynostosis: a case report
Open accessAbstract
Background: ERF-related craniosynostosis are a rare, complex, premature trisutural fusion associated with a broad spectrum of clinical features and heterogeneous aetiology. Here we describe two cases with the same pathogenic variant and a detailed description of their clinical course. Case presentation: Two subjects; a boy with a BLSS requiring repeated skull expansions and his mother who had been operated once for sagittal synostosis. Both developed intracranial hypertension at some point during the course, which was for both verified by formal invasive intracranial pressure monitoring. Exome sequencing revealed a pathogenic truncating frame shift variant in the ERF gene. Conclusions: Here we describe a boy and his mother with different craniosynostosis patterns, but both with verified intracranial hypertension and heterozygosity for a truncating variant of ERF c.1201_1202delAA (p.Lys401Glufs*10). Our work provides supplementary evidence in support of previous phenotypic descriptions of ERF-related craniosynostosis, particularly late presentation, an evolving synostotic pattern and variable expressivity even among affected family members.
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Variants in genes such as FGFR2, TCF12, ERF, KAT6B, ACTB, SH3PXD2B, SALL1, IFT140, SON, CASK, FOXP2, EXTL3, and SOX6 have often been identified in patients with additional dysmorphic, skeletal, neurodevelopmental, or systemic disorders.
“More broadly, variants in genes such as FGFR2, TCF12, ERF, KAT6B, ACTB, SH3PXD2B, SALL1, IFT140, SON, CASK, FOXP2, EXTL3, and SOX6 have often been identified in patients with additional dysmorphic, skeletal, neurodevelopmental, or systemic disorders [41, 47–49, 78, 84, 86, 90, 100, 101, 108–110].”
From Genetics versus environment in the pathophysiology of sagittal synostosis (2026) · cites this paper as [78]
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“…variants in genes such as FGFR2 , TCF12 , ERF , KAT6B , ACTB , SH3PXD2B , SALL1 , IFT140 , SON , CASK , FOXP2 , EXTL3 , and SOX6 have often been identified in patients with additional dysmorphic, skeletal, neurodevel-opmental, or systemic disorders [41, 47–49, 78, 84, 86, 90, 100, 101, 108–110].”
ERF-Related Craniosynostosis in a Patient With Hypochondroplasia: A Case Report
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Metadata
- Authors
- Körberg, I., Nowinski, D., Bondeson, M.-L., Melin, M., Kölby, L., & Stattin, E.-L.
- Affiliations
- Uppsala University (SE)
- Sahlgrenska University Hospital (SE)
- Corresponding author
- Körberg, Izabella
- ORCID
- Venue
- BMC Medical Genetics
- Published
- 2020-05-05
- Volume
- 21
- Issue
- 1
- Pages
- 90-90
- ISSN
- 1471-2350 (ISSN-L)
- PMC
- PMC7201657
- OpenAlex
- W3021608991
- Cited by
- 18
- References
- 16
- Citations by year
- 2026: 1 · 2025: 3 · 2024: 3 · 2023: 1 · 2022: 6 · 2021: 3
- FWCI
- 1.46
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- BMC Medical Genetics (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Uppsala University Publications (Uppsala University) (submittedVersion, other-oa)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Funders
- Stiftelsen Olle Engkvist Byggmästare
- Uppsala Universitet
- Science for Life Laboratory
- Topics
- Health Sciences › Medicine › Surgery › Craniofacial Disorders and Treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
- Keywords
- truncating mutations, intracranial hypertension, sagittal synostosis, variable expressivity, phenotypic heterogeneity, late-onset presentation, exome sequencing
- MeSH terms
- Adult, Craniosynostoses, Female, Heterozygote, Humans, Infant, Male, Mothers, Repressor Proteins, Skull, Intracranial Hypertension, Genetic Predisposition to Disease
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